Results 101 to 110 of about 1,935 (146)

Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain. [PDF]

Rev Neurol
Ros-Arlanzón P, Pelegrín-Durá L, Aledo-Sala C, Moreno-Navarro L, Vaamonde-Esteban Y, Muñoz-Ambit A, Sánchez-Pérez R, Díaz-Marín C.   +7 more
europepmc   +1 more source

[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance]. [PDF]

Rev Neurol, 2022
Vidal-Sanahuja R, Ortez-González CI, Nascimento-Osorio A, Colomer-Oferil J.   +3 more
europepmc   +1 more source

20843. MIOPATÍA VACUOLAR ASOCIADA A UN SÍNDROME MIASTÉNICO CONGÉNITO-GFPT1

Neurology Perspectives
C. Ortega Hiraldo, P. Carbonell Corvillo, E. Rivas Infante, J. Romero Godoy, A. G. Gómez González, A. Aguilar Monge   +5 more
semanticscholar   +1 more source

Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil. [PDF]

Arq Neuropsiquiatr
Lorenzoni PJ, Kay CSK, Ducci RD, Fustes OJH, Rodrigues PRDVP, Arndt RC, Scola RH, Werneck LC.   +7 more
europepmc   +1 more source

20698. MIOPATÍA, POLINEUROPATÍA AXONAL E ICTUS EN LA INFECCIÓN AGUDA POR TOXOPLASMA

Neurology Perspectives
R. Ferrer Tarrés, M. García Huguet, C. Vera Cáceres, I. Saurina Navarro, C. Martínez Follana, C. Marco Cazcarra, D. L. López Domínguez   +6 more
semanticscholar   +1 more source

20204. MIOPATÍA DISTAL DE LAING (MPD1). UN CASO CLÍNICO

Neurology Perspectives
M. Afkir Ortega, M. Máñez Sierra, F. Pinel Ríos, M. Carbonell Corvillo, C. Ortega Hiraldo   +4 more
semanticscholar   +1 more source

[Shulman syndrome: An atypical presentation of a rare disease]. [PDF]

Rev Med Inst Mex Seguro Soc
Sánchez-Ruiz ÁA, García-Ramos B, García-Ramos V.   +2 more
europepmc   +1 more source

21041. NUEVO FENOTIPO DE MIOPATÍA CONGÉNITA CON PARÁLISIS PERIÓDICA ASOCIADO A MUTACIONES EN EL GEN CACNA1S

Neurology Perspectives
M. Afkir Ortega, P. Hernández Vitorique, M. Vicente Domínguez, M. Carbonell Corvillo, M. Máñez Sierra   +4 more
semanticscholar   +1 more source

Eosinophilic fasciitis. [PDF]

Med Clin (Barc)
Pinal-Fernández I, Milisenda JC, Selva-O'Callaghan A.   +2 more
europepmc   +1 more source

21410. MIOPATÍA DISTAL POR DESMINOPATÍA: NUEVA VARIANTE PATOGÉNICA

Neurology Perspectives
M. Vicente Domínguez, M. Afkir Ortega, P. Hernández Vitorique, P. Carbonell Corvillo, M. Máñez Sierra   +4 more
semanticscholar   +1 more source